ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.693G>T (p.Glu231Asp) (rs797044938)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000192641 SCV000247664 likely pathogenic Seizures 2015-07-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000192641 SCV000851401 pathogenic Seizures 2016-12-13 criteria provided, single submitter clinical testing Confirmed de novo alteration in the setting of a new disease (appropriate phenotype) in the family

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